Results 121 to 130 of about 390,058 (293)

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients [PDF]

, 2016
Background and Aims Lynch Syndrome (LS) is caused by pathogenic germline variants in one of the mismatch repair (MMR) genes. However, up to 60% of MMR-deficient colorectal cancer cases are categorized as suspected Lynch Syndrome (sLS) because no ...
Devilee, P. (Peter), Geilenkirchen, M.A. (Marije A.), Gómez García, E.B. (Encarna), Hes, F.J. (Frederik), Jagmohan-Changur, S.C. (Shantie), Jansen, A.M.L. (Anne M. L.), Klift, H.M. (Heleen) van der, Laros, J.F.J. (Jeroen F.), Letteboer, T.G.W. (Tom), Morreau, H. (Hans), Ruano, D. (Dina), Tops, C. (Carli), Van Den Akker, B.E.W.M. (Brendy E. W. M.), Van Galen, M. (Michiel), Vasen, H. (Hans), Wagner, A. (Anja), Wezel, T. (Tom) van, Wijnen, J.T. (Juul)   +17 more
core   +1 more source

Integrated genomic and proteomic profiling reveals insights into chemoradiation resistance in cervical cancer

Molecular Oncology, EarlyView.
A comprehensive genomic and proteomic analysis of cervical cancer revealed STK11 and STX3 as a potential biomarkers of chemoradiation resistance. Our study demonstrated EGFR as a therapeutic target, paving the way for precision strategies to overcome treatment failure and the DNA repair pathway as a critical mechanism of resistance.
Janani Sambath, Irene A. George, Srikanth S. Manda, Prasanth Ariyannur, Ekta R. Dhawale, Raja Sekhar Kommu, Rajan Datar, Darshana Patil, Vinita Trivedi, Manisha Singh, Kumar Prabhash, Sewanti Limaye, Richa Chauhan, Prashant Kumar   +13 more
wiley   +1 more source

Genome-Wide Multiple Sclerosis Association Data and Coagulation [PDF]

, 2019
The emerging concept of a crosstalk between hemostasis, inflammation, and immune system prompt recent works on coagulation cascade in multiple sclerosis (MS).
Arianna Fornasiero, Giovanni Ristori, Marco Salvetti, Marco Salvetti, Maria Chiara Buscarinu, Michela Ferraldeschi, Renato Umeton, Renato Umeton, Rosella Mechelli, Sara La Starza, Silvia Romano   +10 more
core   +2 more sources

Gut microbiota diversity is prognostic in metastatic hormone receptor‐positive breast cancer patients receiving chemotherapy and immunotherapy

Molecular Oncology, EarlyView.
In this exploratory study, we investigated the relationship between the gut microbiota and outcome in patients with metastatic hormone receptor‐positive breast cancer, treated in a randomized clinical trial with chemotherapy alone or chemotherapy in combination with immune checkpoint blockade.
Andreas Ullern, Kristian Holm, Nikolai Kragøe Andresen, Andreas Hagen Røssevold, Corinna Bang, Bjørn Naume, Johannes R. Hov, Jon Amund Kyte   +7 more
wiley   +1 more source

Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder

BMC Genomics
Background Autistic Spectrum Disorder (ASD) is a neurodevelopmental disorder with a strong genetic component and high heterogeneity. Essential ASD refers to patients who do not have other comorbidities.
Paola Granata, Alessandra Zito, Dario Cocciadiferro, Antonio Novelli, Chiara Pessina, Tommaso Mazza, Matteo Ferri, Paolo Piccinelli, Chiara Luoni, Cristiano Termine, Mauro Fasano, Rosario Casalone   +11 more
doaj   +1 more source

Evaluating the role of pathogenic dementia variants in posterior cortical atrophy [PDF]

, 2016
Posterior cortical atrophy (PCA) is an understudied visual impairment syndrome most often due to “posterior Alzheimer's disease (AD)” pathology. Case studies detected mutations in PSEN1, PSEN2, GRN, MAPT, and PRNP in subjects with clinical PCA. To detect
Adzhubei, Ala, Alladi, Barrett, Benson, Bradley F. Boeve, Carney, Caroppo, Carrasquillo, Crutch, Cruts, de Souza, Dennis W. Dickson, Depaz, Gamze Balci Camsari, Ghani, Gina D. Bisceglio, Goate, Grove, Guerreiro, Guerreiro, Imelda Barber, Jonsson, Julia E. Crook, Kevin Morgan, Kleinberger, Lambert, Lehmann, Li Ma, Melissa E. Murray, Minerva M. Carrasquillo, Nalls, Neill R. Graff-Radford, Nilüfer Ertekin-Taner, Perry, Purcell, Qurat ul Ain. Khan, Renner, Rogaev, Rosenbloom, Rossi, Saint-Aubert, Sarah J. Lincoln, Sassi, Seguin, Sherrington, Sitek, Steven G. Younkin, Tang-Wai, Thuy Nguyen, Tremolizzo, Victoroff, Wojtas, Yu   +53 more
core   +1 more source

Adaptaquin is selectively toxic to glioma stem cells through disruption of iron and cholesterol metabolism

Molecular Oncology, EarlyView.
Adaptaquin selectively kills glioma stem cells while sparing differentiated brain cells. Transcriptomic and proteomic analyses show Adaptaquin disrupts iron and cholesterol homeostasis, with iron chelation amplifying cytotoxicity via cholesterol depletion, mitochondrial dysfunction, and elevated reactive oxygen species.
Adrien M. Vaquié, Davod R. Shah, Eliane E. S. Brechbühl, Michael McNicholas, Zhaoyang Xu, John H. Stockley, Laura Morcom, Diana Gold Diaz, Gemma C. Girdler, Rachel V. Seear, Gabriel Balmus, Rajiv R. Ratan, Harry Bulstrode, James A. Nathan, Manav Pathania, Kevin M. Brindle, David H. Rowitch   +16 more
wiley   +1 more source

Germline variant spectrum of hereditary cancer susceptibility genes in a Chinese cohort

Human Genomics
Background Hereditary cancers, caused by germline pathogenic variants in cancer susceptibility genes, account for 5%∼10% of malignancies globally. However, their prevalence and genetic spectrum in the Chinese population remain poorly characterized.
Chanyu Xiong, Xiao Wang, Juanjuan Ji, Tianshu Yu, Yun Zhang, Zhilin Jiang, Jinbo Liu, Junyu Zhang, Yin Lin, Bo Gong, Yu Zhou   +10 more
doaj   +1 more source

Polygenic risk for schizophrenia and season of birth within the UK Biobank cohort [PDF]

, 2018
Background: There is strong evidence that people born in winter and in spring have a small increased risk of schizophrenia. As this ‘season of birth’ effect underpins some of the most influential hypotheses concerning potentially modifiable risk ...
Escott-Price, Valentina, Kendall, Kimberley, Kirov, George, O'Donovan, Michael C., Owen, Michael J., Smith, Daniel J., Walters, James, Ward, Joey   +7 more
core   +3 more sources

Feasibility of a ctDNA multigenic panel for non‐small‐cell lung cancer early detection and disease surveillance

Molecular Oncology, EarlyView.
Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Mariana Bisarro dos Reis, Rodrigo de Oliveira Cavagna, Luciane Sussuchi, Icaro Alves Pinto, Natalia Zampieri Pontes, Rodrigo Sampaio Chiarantano, Flavio Augusto Ferreira da Silva, Pedro de Marchi, Letícia Ferro Leal, Rui M. Reis   +11 more
wiley   +1 more source